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7 studies found for:    "carbamoyl phosphate synthetase I deficiency" OR "Carbamoyl-Phosphate Synthase I Deficiency Disease"

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Rank Status Study
1 Recruiting Human Heterologous Liver Cells for Infusion in Children With Urea Cycle Disorders
Conditions: Urea Cycle Disorders;   Carbamoylphosphate Synthetase I Deficiency Disease;   Ornithine Transcarbamylase Deficiency Disease;   Citrullinemia
Intervention: Biological: Human Heterologous Liver Cells
2 Not yet recruiting Short-term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia
Conditions: Propionic Acidemia (PA);   Methylmalonic Acidemia (MMA);   Late-onset CPS1 Deficiency (CPSD);   Late-onset Ornithine Transcarbamylase Deficiency (OTCD)
Interventions: Drug: Carbaglu;   Drug: Placebo;   Drug: Standard Care Treatment
3 Recruiting Increasing Ureagenesis in Inborn Errors of Metabolism With N-Carbamylglutamate
Conditions: Urea Cycle Disorders, Inborn;   Inborn Errors of Metabolism;   Propionic Acidemia;   Methylmalonic Acidemia;   Carbamyl Phosphate Synthetase Deficiency
Intervention: Drug: N-carbamylglutamate
4 Terminated The NIH UNI Study: Urea Cycle Disorders, Nutrition and Immunity
Conditions: Argininosuccinic Aciduria;   Carbamoyl-Phosphate Synthase I Deficiency;   Citrullinemia;   Ornithine Carbamoyltransferase Deficiency;   Hyperargininemia;   N-Acetylglutamate Synthase Deficiency
Intervention:
5 Recruiting Arginine and CPS Polymorphisms
Condition: Preterm Infants
Intervention: Other: blood sample and buccal swab sample
6 Recruiting Hepatocyte Transplantation for Liver Based Metabolic Disorders
Condition: Metabolic Diseases
Intervention: Drug: human hepatocyte transplantation
7 Recruiting Pilot Study For Hypothermia Treatment In Hyperammonemic Encephalopathy In Neonates And Very Young Infants
Conditions: Urea Cycle Disorders;   Organic Acidemias
Interventions: Other: Therapeutic Hypothermia;   Other: Standard of care therapy
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† Indicates status has not been verified in more than two years